PTEN過誤腫症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000314.8(PTEN):c.827del (p.Asn276fs)	PTEN	Pathogenic	10	89720674	89720674	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10607050
Deletion	NM_000314.8(PTEN):c.802-2del	PTEN	Likely pathogenic	10	89720649	89720649	TA	T	reviewed by expert panel	ClinGen:CA10632766
single nucleotide variant	NM_000314.8(PTEN):c.1027-1G>A	PTEN	Pathogenic	10	89725043	89725043	G	A	reviewed by expert panel	ClinGen:CA16042723
single nucleotide variant	NM_000314.8(PTEN):c.320A>T (p.Asp107Val)	PTEN	Pathogenic	10	89692836	89692836	A	T	reviewed by expert panel	ClinGen:CA16042748
single nucleotide variant	NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)	PTEN	Pathogenic	10	89692904	89692904	C	G	reviewed by expert panel	ClinGen:CA16602437
single nucleotide variant	NM_000314.8(PTEN):c.477G>T (p.Arg159Ser)	PTEN	Likely pathogenic	10	89692993	89692993	G	T	reviewed by expert panel	ClinGen:CA16602438
single nucleotide variant	NM_000314.8(PTEN):c.518G>A (p.Arg173His)	PTEN	Pathogenic/Likely pathogenic	10	89711900	89711900	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA060209
single nucleotide variant	NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)	PTEN	Pathogenic/Likely pathogenic	10	89692905	89692905	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602940
single nucleotide variant	NM_000314.8(PTEN):c.254-1G>A	PTEN	Pathogenic/Likely pathogenic	10	89692769	89692769	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603356
single nucleotide variant	NM_000314.8(PTEN):c.164+1G>T	PTEN	Pathogenic	10	89653867	89653867	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606092